Article

Homozygous <i>STAT2</i> gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

2019-12-16

Abstract excerpt

Type I interferonopathies are monogenic disorders characterized by enhanced Type I interferon (IFN-I) activity. Inherited ISG15 and USP18 deficiencies underlie type I interferonopathies by preventing the regulation of late responses to IFN-I. Specifically, ISG15/USP18 are induced by IFN-I and sterically hinder JAK1 from binding to the IFNAR2 subunit of IFN-I receptor. We report an infant who died of autoinflammati...

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Literature Corpus work: 942442c7-0552-54d9-b78a-f361ac998374
DOI: 10.1101/2019.12.12.874123

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